Open AccessA case of Carney complex presenting as acute testicular pain
Author(s) -
Adam Alleemudder,
Rajiv Pillai
Publication year - 2016
Publication title -
urology annals
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.355
H-Index - 20
eISSN - 0974-7834
pISSN - 0974-7796
DOI - 10.4103/0974-7796.184887
Subject(s) - carney complex , medicine , sertoli cell , endocrine system , testicular pain , pathology , dermatology , hormone , gene , surgery , biology , spermatogenesis , genetics
We describe the case of a 7-year-old boy who presented with testicular pain but was found to have bilateral testicular lesions later confirmed as Sertoli cell tumors. Genetic testing confirmed a PRKAR1A gene mutation consistent with Carney complex, a rare genetic disorder characterized by skin lesions, myxomas, and multiple endocrine neoplasms. A review of the condition is made highlighting the association with testicular tumors, particularly of Sertoli cell origin.